CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0431/04317.txt

Text File | 1994-01-18 | 10.5 KB | 262 lines

$Unique_ID{BRK04317}
$Pretitle{}
$Title{Von Hippel-Lindau Disease}
$Subject{Von Hippel-Lindau Disease Lindau's Disease Hippel's Disease
Retinocerebral Angiomatosis Cerebelloretinal Hemangioblastomatosis
Angiomatosis Retina Angiophakomatosis Retinae et Cerebelli Hippel-Lindau
Disease Cerebellum, Hemangioblastoma Neurofibromatosis von Recklinghausen's
Disease Sturge-Weber Syndrome Tuberous Sclerosis Pheochromocytoma}
$Volume{}
$Log{}

Copyright (C) 1986, 1988, 1989, 1990, 1991 National Organization for Rare
Disorders, Inc.

181:
Von Hippel-Lindau Disease

** IMPORTANT **
It is possible that the main title of the article (von Hippel-Lindau
Disease) is not the name you expected.  Please check the synonym list to find
the alternate names and disorder subdivisions covered by this article.

Synonyms

     Lindau's Disease
     Hippel's Disease
     Retinocerebral Angiomatosis
     Cerebelloretinal Hemangioblastomatosis
     Angiomatosis Retina
     Angiophakomatosis Retinae et Cerebelli
     Hippel-Lindau Disease
     Cerebellum, Hemangioblastoma

Information on the following diseases can be found in the Related
Disorders section of this report:

     Neurofibromatosis (von Recklinghausen's Disease)
     Sturge-Weber Syndrome
     Tuberous Sclerosis
     Pheochromocytoma

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Von Hippel-Lindau Disease a hereditary disorder characterized by multiple
focal tissue malformations called hamartomas.  These growths may be found in
the retina, brain (occasionally extending to the spinal cord), kidneys,
adrenal glands, and other organs.  Symptoms may include headaches, dizziness
and failure of muscular coordination (ataxia).  Chronic high blood pressure
may also be present.  This disorder tends to run in families, and symptoms
may vary.

Symptoms

Von Hippel-Lindau Disease usually begins during young adulthood but may
appear as early as the age of eight.  The disorder is characterized by
headaches, dizziness and failure of muscular coordination (ataxia).
Unreasonable behavior may also occur.  Eye examinations reveal enlarged and
twisted blood vessels in the retina.  Bulges in the blood vessels (aneurysms)
may develop in these retinal vessels which may form a tumor (angioma) that
resembles a balloon.  Benign tumors (pheochromocytomas) of the adrenal glands
may be present as well, causing chronic high blood pressure, pounding
heartbeat, headache, cold hands and feet, and excessive sweating.  After a
certain age, the high blood pressure may return to normal.  Subretinal yellow
spots as well as star-shaped material may be seen on the retina when examined
with an ophthalmoscope.  Blood tests may show an increase of red cell mass
(polycythemia).

Neurological (Brain) changes, detachment of the retina, glaucoma (high
pressure in the eyes) blindness and kidney problems may also occur.

Causes

Von Hippel-Lindau Disease is an autosomal dominant genetic disorder with
various forms.  Scientists believe they have located the gene that causes
Von-Hippel Lindau Disease on chromosome number 3.  Thus affected people may
have a mild, moderate, or severe form of the disease depending upon the
degree to which the gene affects the patient.

Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.  In dominant disorders, a single copy of the disease
gene (received from either the mother or father) will be expressed
"dominating" the normal gene and resulting in appearance of the disease.  The
risk of transmitting the disorder from affected parent to offspring is 50%
for each pregnancy regardless of the sex of the resulting child.

Tumors of the retina may be associated with benign, slowly growing tumors
of the brain (hemangioblastomas) usually in the cerebellum.  Other parts of
the central nervous system such as the medulla, brain stem or the spinal cord
are rarely affected.

Affected Population

Von Hippel-Lindau Disease affects males and females in equal numbers.

Related Disorders

Symptoms of the following disorders can be similar to those of von
Hippel-Lindau Disease.  Comparisons may be useful for a differential
diagnosis:

Neurofibromatosis (von Recklinghausen Disease) is a genetic disorder with
highly variable manifestations which can affect many body systems.  The
disease is characterized by multiple nerve tumors under the skin which can
result in disfigurement, and other complications.  (For more information on
this disorder, choose "Neurofibromatosis " as your search term in the Rare
Disease Database).

Sturge-Weber Syndrome is an inherited disorder in which a port-wine
colored stain (angioma) on the face and intracranial abnormalities are
present at birth.  Generalized seizures usually occur between one and two
years of age, with additional neurologic symptoms.  Glaucoma of the eye on
the affected side and defective vision may also occur.  (For more information
on this disorder, choose "Sturge-Weber Syndrome " as your search term in the
Rare Disease Database).

Tuberous Sclerosis is a disorder associated with benign tumors of the
brain, skin lesions and occasionally involvement of other internal organs.
It is most often characterized by two neurologic symptoms-epileptic seizures
and varying degrees of mental retardation.  (For more information on this
disorder, Choose "Tuberous Sclerosis" as your search term in the Rare Disease
Database).

The following disorder may be associated with von Hippel-Lindau Disease
as a secondary characteristic.  It is not necessary for a differential
diagnosis:

Pheochromocytoma is a tumor usually found in the marrow (medulla) of the
adrenal gland.  The tumor secretes hormones, which may cause high blood
pressure.   Attacks of pounding heartbeat and severe headache can occur, or
the blood pressure may be chronically elevated.  Cooler than normal hands and
feet, unusual facial paleness, and excessive sweating also occur.  Patients
usually experience marked anxiety, severe nausea, vomiting, visual
disturbances, and chest or abdominal pain.  Unusual sensations (paresthesias)
or seizures can also occur.  The tumors affect males and females equally, and
they are usually benign.  Early detection is important, and surgical removal
of the tumor usually halts the symptoms of Pheochromocytoma.

The National Institutes of Health has a clinical screening for persons
from families with von Hippel-Lindau Disease.  There is no cost to the
patients for examination or travel.  For further information, please
contact:

     Dr. Berton Zbar
     Laboratory of Immunobiology
     Bldg. 560, Rm. 12-17
     National Cancer Institute
     Frederick, MD  21701

Therapies:  Standard

There are two different ways to treat von Hippel-Lindau Disease:  Vascular
lesions in the retina can be destroyed by an intense light beam (laser) and
cryotherapy (the use of cold in treatment).  These therapies all appear to be
effective in lesions smaller than 2.5cc.  Larger lesions respond best to
cryotherapy.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

Drs. Gary Skuse and Peter Rowley of the Division of Genetics, University of
Rochester School of Medicine, are analyzing the role of oncogenes in tumors
from people with von Hippel-Lindau Disease.  They request that they be
notified of surgery for tumors in this condition as soon as it is scheduled
so that arrangements can be made to receive tissue samples.  Please call Dr.
Rowley, Dr. Skuse, or Barbara Kosciolek at [phone].

This disease entry is based upon medical information available through
November 1991.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on von Hippel-Lindau Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Von Hippel-Lindau Syndrome Foundation
     P.O. Box 733
     Toms River, NJ  08754-0733
     [phone]

     VHL Family Forum
     171 Clinton Rd.
     Brookline, MA  02146
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     NIH/National Eye Institute (NEI)
     9000 Rockville Pike
     Bethesda, MD 20892
     [phone]

     Gary R. Skuse, Ph.D.
     University of Rochester Medical Center
     Division of Genetics
     601 Elwood Center, Box 4641
     Rochester, NY  14641

     Eye Research Institute
     20 Staniford St.
     Boston, MA 02114
     [phone]

     NIH/National Cancer Institute
     9000 Rockville Pike, Bldg. 31, Rm. 1A2A
     Bethesda, MD 20892
     1-800-4-CANCER

The National Cancer Institute has developed PDQ (Physician Data Query), a
computerized database designed to give the public, cancer patients and
families, and health professionals quick and easy access to many types of
information vital to patients with this and many other types of cancer.  To
gain access to this service, call:

     Cancer Information Service (CIS)
     1-800-4-CANCER
     In Washington, DC and suburbs in Maryland and Virginia, 636-5700
     In Alaska, 1-800-638-6070
     In Oahu, Hawaii, [phone] (Neighbor islands call collect)

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References


FAMILIAL PHEOCHROMOCYTOMA, HYPERCALCEMIA, AND VON HIPPEL-LINDAU DISEASE, A
TEN YEAR STUDY OF A LARGE FAMILY, N. O. Atuk, et al.; Dept. of Internal Med.
U. of VA, Medicine (vol. 58 (3) ). Pp. 209-218.